Related Experiment Video

Updated: May 7, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
10:56

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

[Expert consensus on the detection and clinical management of familial hypercholesterolemia]

Lluís Masana1, Fernando Civeira, Juan Pedro-Botet

  • 1Sociedad Española de Arteriosclerosis, España.

Clinica E Investigacion En Arteriosclerosis : Publicacion Oficial De La Sociedad Espanola De Arteriosclerosis
|September 18, 2013
PubMed

Insights

Familial hypercholesterolemia (FH) is a severe genetic disorder. Early diagnosis and rapid LDL-cholesterol normalization through lipid-lowering therapy are crucial for improving patient outcomes and preventing premature death.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Pharmacology

Context:

  • Familial hypercholesterolemia (FH) is a prevalent and severe genetic disease.
  • FH leads to significant disability and premature mortality.
  • Lipid-lowering therapy is vital for improving FH patient prognosis.

Purpose:

  • To update scientific knowledge on Familial hypercholesterolemia.
  • To provide physicians with clear clinical guidelines for FH diagnosis and treatment.
  • To emphasize early diagnosis and rapid LDL-cholesterol normalization.

Summary:

  • The Spanish Society of Arteriosclerosis (SEA) developed guidelines for FH.
  • Key recommendations include early disease detection and prompt LDL-cholesterol normalization.
  • Focus is placed on Lipids Units for patient referral and management in Spain.

Impact:

  • Aims to increase FH patient diagnosis awareness.
  • Ensures adequate and timely pharmacological treatment for FH patients.
  • Contributes to reducing the burden of cardiovascular disease associated with FH.

Keywords:
Clinical managementDirectricesFamilial hypercholesterolemiaGuidelinesHipercolesterolemia familiarManejo clínico

Related Concept Videos

Atherosclerosis III: Management01:26

Atherosclerosis III: Management

Management of atherosclerosis involves an integrated strategy encompassing pharmacological treatment, surgical interventions, lifestyle changes, and nutrition therapy to address the multifactorial nature of the disease.Pharmacological TherapyA cornerstone of atherosclerosis management is the use of pharmacological agents. Statins, such as atorvastatin, are pivotal in inhibiting HMG-CoA reductase, an enzyme that catalyzes an initial step in cholesterol synthesis in the liver. This reduction in...
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests01:27

Atherosclerosis II: Clinical Manifestations and Diagnostic Tests

Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
Cholesterol: Significance and Regulation01:29

Cholesterol: Significance and Regulation

Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
Hypertension III: Clinical Manifestations and Diagnostic Studies01:30

Hypertension III: Clinical Manifestations and Diagnostic Studies

Hypertension is asymptomatic and also referred to as the "silent killer" until it progresses to a severe stage or causes target organ disease. Patients may experience symptoms stemming from the strain on blood vessels and tissues in various organs or the heart's increased workload.Physical exams might show no abnormalities other than high blood pressure. Signs of vascular damage, when present, correspond to the organs supplied by the affected vessels, leading to target organ damage. For...
Lipid-Lowering Drugs: Statins and Miscellaneous Agents01:20

Lipid-Lowering Drugs: Statins and Miscellaneous Agents

Hyperlipidemia, a medical condition often referred to as high cholesterol, is characterized by abnormally elevated levels of lipids in the bloodstream. When present in excess, these lipids, specifically cholesterol and triglycerides, can lead to serious health complications, often involving cardiovascular diseases. Illnesses like atherosclerosis, heart attacks, and pancreatitis have all been linked to untreated hyperlipidemia. This means controlling and regulating cholesterol and triglyceride...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...